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Common Findings in Tuberous Sclerosis

Brain    Cortical tubers    Subependymal nodules (“candle gutterings”)    Ventriculomegaly (“idiopathic or obstructive”)    Redial-glia abnormalities    Subependymal giant cell astrocytoma    Seizures    Infantile spasms (hypsarrhythmia)    Mental handicap Eye    Retinal hamartoma (phakoma of van der Hoeve) Skin    Angiofibroma (of face) (“angiofibroma”)    Ungual fibroma (angiofibroma of nailbed)    Hypomelanotic macules (ash leaf macule)    Shagreen patch (subepidermal fibrosis)    Fibrous forehead plaque Heart    Cardiac rhabdomyoma Kidney    Multiple angiomyolipoma    Multiple cysts Lung    Lymphangiomyomatosis    “Honeycomb lung”    Pheumothorax Bone    Bone islands (sclerotic calvarial patches) “Cystic” bone lucencies (small tubular bones—hands, etc.) Primary diagnostic criteria (only one necessary) are in italics. Many of the features not in italics are “secondary diagnostic criteria”—two or more of which and/or a family history can also be used to make a clinical diagnosis of the tuberous sclerosis complex.